Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01099:Colec12'

53169

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Colec12

Ensembl Gene

ENSMUSG00000036103

Gene Name

collectin sub-family member 12

Synonyms

CL-P1, SRCL, Scara4

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.514) question?

Stock #

IGL01099

Quality Score

Status

Chromosome

Chromosomal Location

9707648-9877995 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 9848826 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 335 (R335C)

Ref Sequence

ENSEMBL: ENSMUSP00000043220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040069]

PDB Structure

Mouse Scavenger Receptor C-type Lectin carbohydrate-recognition domain. [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000040069
AA Change: R335C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043220
Gene: ENSMUSG00000036103
AA Change: R335C

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
coiled coil region	112	157	N/A	INTRINSIC
low complexity region	205	211	N/A	INTRINSIC
coiled coil region	217	247	N/A	INTRINSIC
low complexity region	268	280	N/A	INTRINSIC
low complexity region	369	385	N/A	INTRINSIC
Pfam:Collagen	441	499	1.4e-10	PFAM
Pfam:Collagen	482	548	9.6e-10	PFAM
Pfam:Collagen	530	591	3.8e-11	PFAM
CLECT	607	731	4.19e-36	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor, a cell surface glycoprotein that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933425L06Rik	A	T	13: 105,109,360	H143L	probably benign	Het
Abca8a	G	A	11: 110,074,205		probably benign	Het
Adam28	A	G	14: 68,637,329		probably null	Het
Adcy10	A	G	1: 165,539,842	I560M	probably benign	Het
Alpl	G	A	4: 137,743,313		probably benign	Het
Ank1	G	A	8: 23,108,249	G753D	probably damaging	Het
Arhgef28	A	T	13: 97,953,972		probably benign	Het
Bmp7	A	T	2: 172,875,262	C329S	probably damaging	Het
Capn13	T	C	17: 73,351,509	D188G	probably damaging	Het
Car10	G	A	11: 93,578,690	E164K	possibly damaging	Het
Cfhr1	T	A	1: 139,547,759		probably benign	Het
Col11a1	C	T	3: 114,112,041	R562*	probably null	Het
Cyb561d2	C	T	9: 107,540,289		probably null	Het
D430042O09Rik	T	A	7: 125,865,320	H1286Q	probably damaging	Het
Epb41l3	A	G	17: 69,210,193	D72G	possibly damaging	Het
Etl4	T	C	2: 20,807,111	L1335P	probably benign	Het
F5	T	G	1: 164,194,334	N1459K	probably damaging	Het
Fam161a	T	C	11: 23,015,894		probably benign	Het
Flnc	G	A	6: 29,433,618	V54M	probably damaging	Het
Fndc3b	T	C	3: 27,463,817	I607V	probably benign	Het
Fscb	A	G	12: 64,472,101	S864P	unknown	Het
Glod4	T	A	11: 76,239,550	K36*	probably null	Het
Gm6619	G	A	6: 131,490,430	R86Q	possibly damaging	Het
Gm7052	T	C	17: 22,039,725		probably benign	Het
Gyg	A	T	3: 20,151,047	M119K	probably benign	Het
Ifit2	A	T	19: 34,573,302	I81F	probably damaging	Het
Insr	T	C	8: 3,258,682	Y118C	probably damaging	Het
Kcnh3	T	C	15: 99,239,736	S771P	probably benign	Het
Kndc1	C	A	7: 139,920,784	H688Q	probably damaging	Het
Mybpc2	A	G	7: 44,516,167	C330R	probably damaging	Het
Naa50	A	T	16: 44,156,469	N23I	probably damaging	Het
Olfr544	T	A	7: 102,484,478	D214V	probably damaging	Het
Olfr76	A	G	19: 12,119,876	S279P	probably damaging	Het
Olfr894	T	C	9: 38,219,743	S307P	probably benign	Het
Olfr912	T	C	9: 38,582,077	S267P	probably benign	Het
Pfkp	A	T	13: 6,603,390		probably benign	Het
Phlda2	G	A	7: 143,502,139		probably null	Het
Plxnd1	C	A	6: 115,969,945	V823L	probably benign	Het
Ppil2	T	A	16: 17,091,212	M368L	probably damaging	Het
Prpf40a	T	A	2: 53,141,835	H794L	probably benign	Het
Ripor2	A	T	13: 24,701,207	H436L	probably benign	Het
Rnf138	T	A	18: 21,020,913	C159S	possibly damaging	Het
Scn7a	A	T	2: 66,684,238	V1064D	probably damaging	Het
Slc12a2	T	A	18: 57,906,020	C557*	probably null	Het
Slc1a6	T	C	10: 78,788,997	S79P	possibly damaging	Het
Snapin	G	A	3: 90,490,602		probably benign	Het
Tdp1	A	T	12: 99,915,445		probably benign	Het
Tigar	G	T	6: 127,088,145	A180E	probably benign	Het
Trav6-2	A	T	14: 52,667,665	T48S	probably benign	Het
Ttn	A	G	2: 76,728,432	Y29702H	probably damaging	Het
Ush1c	A	G	7: 46,205,262	S689P	probably damaging	Het
Vmn1r40	A	T	6: 89,714,596	I132F	probably damaging	Het
Vmn1r85	T	A	7: 13,084,534	K228*	probably null	Het
Wdr33	C	A	18: 31,906,789		probably benign	Het
Ybx2	A	T	11: 69,940,730	Q136L	probably damaging	Het

Other mutations in Colec12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02477:Colec12	APN	18	9859858	missense	unknown
R0128:Colec12	UTSW	18	9858921	missense	unknown
R0130:Colec12	UTSW	18	9858921	missense	unknown
R0178:Colec12	UTSW	18	9858921	missense	unknown
R0179:Colec12	UTSW	18	9858921	missense	unknown
R0180:Colec12	UTSW	18	9848890	missense	probably damaging	0.99
R0180:Colec12	UTSW	18	9858921	missense	unknown
R0318:Colec12	UTSW	18	9848446	missense	possibly damaging	0.77
R0344:Colec12	UTSW	18	9858921	missense	unknown
R0573:Colec12	UTSW	18	9858650	missense	probably damaging	0.97
R1028:Colec12	UTSW	18	9866837	missense	unknown
R1693:Colec12	UTSW	18	9866765	missense	unknown
R1951:Colec12	UTSW	18	9859975	critical splice donor site	probably null
R2008:Colec12	UTSW	18	9874813	missense	probably benign	0.03
R2181:Colec12	UTSW	18	9846828	missense	probably damaging	0.99
R4258:Colec12	UTSW	18	9720950	missense	probably damaging	1.00
R4794:Colec12	UTSW	18	9848984	missense	probably damaging	0.99
R5269:Colec12	UTSW	18	9846825	missense	possibly damaging	0.67
R5369:Colec12	UTSW	18	9866750	missense	unknown
R5421:Colec12	UTSW	18	9858580	missense	probably damaging	1.00
R5608:Colec12	UTSW	18	9848267	missense	possibly damaging	0.95
R5668:Colec12	UTSW	18	9848963	missense	probably damaging	1.00
R5684:Colec12	UTSW	18	9849009	missense	probably damaging	0.99
R6547:Colec12	UTSW	18	9840351	missense	probably damaging	1.00
R7194:Colec12	UTSW	18	9848248	missense	probably benign	0.08
R7253:Colec12	UTSW	18	9848922	missense	probably damaging	1.00
Z1088:Colec12	UTSW	18	9848727	missense	probably benign	0.31

Posted On

2013-06-21